Studying Rare Diseases Using induced Pluripotent Stem Cell (iPSC)-based Model Systems

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Articles

ORIGINAL RESEARCH

Accepted on 31 Mar 2025

Dominant RDH12-retinitis pigmentosa impairs photoreceptor development and implicates cone involvement in retinal organoids

Cécile Méjécase
Ya Zhou
Nicholas Owen
Pablo Soro-Barrio
Riccardo Cheloni
Neelima Nair
Hajrah Sarkar
Lyes Toualbi
Mariya Moosajee

doi 10.3389/fcell.2025.1511066

REVIEW

Published on 27 Jan 2025

Human-based complex in vitro models: their promise and potential for rare disease therapeutics

Surat Parvatam
Francesca Pistollato
Lindsay J. Marshall
Fabia Furtmann
Devashree Jahagirdar
Mohua Chakraborty Choudhury
Sujata Mohanty
Harshita Mittal
Saveetha Meganathan
Rakesh Mishra

doi 10.3389/fcell.2025.1526306

1,181 views

REVIEW

Published on 03 Jan 2025

Human stem cell models for Marfan syndrome: a brief overview of the rising star in disease modelling

Jeffrey Aalders
Laura Muiño Mosquera
Jolanda van Hengel

doi 10.3389/fcell.2024.1498669

856 views

ORIGINAL RESEARCH

Published on 26 Jun 2024

Patient-derived and gene-edited pluripotent stem cells lacking NPHP1 recapitulate juvenile nephronophthisis in abnormalities of primary cilia and renal cyst formation

Yutaka Arai
Hidenori Ito
Tomoya Shimizu
Yuzuno Shimoda
Dan Song
Mami Matsuo-Takasaki
Tadayoshi Hayata
Yohei Hayashi

doi 10.3389/fcell.2024.1370723

2,156 views
2 citations

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Frontiers in Cell and Developmental Biology

Frontiers in Cell and Developmental Biology

Stem Cell Research

Participating Journals

Frontiers in Genetics
- Stem Cell Research
- 2.8 impact factor
- 5.5 citescore

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